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Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.2496145C= , CM000678.2:g.2496145C=
GRCh38
NC_000016.9:g.2546146C= , CM000678.1:g.2546146C=
GRCh37
NC_000016.8:g.2486147C=
NCBI36
NG_028170.1:g.26000C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000562105.2:c.-4C=
ENSP00000457896.2:n.-4C=
ENST00000567020.6:c.-4C=
ENSP00000454408.1:n.-4C=
ENST00000569874.2:c.-4C=
ENSP00000455005.2:n.-4C=
ENST00000643767.1:c.-4C=
ENSP00000494145.1:n.-4C=
ENST00000646147.1:c.-4C=
MANE Select
ENSP00000494678.1:n.-4C=
ENST00000293970.9:c.-4C=
ENSP00000293970.5:n.-4C=
ENST00000562105.1:c.-4C=
ENSP00000457896.1:n.-4C=
ENST00000564543.1:c.-4C=
ENSP00000455547.1:n.-4C=
ENST00000567020.5:c.-4C=
ENSP00000454408.1:n.-4C=
ENST00000627285.1:c.-4C=
ENSP00000486121.1:n.-4C=
ENST00000630263.2:c.-4C=
ENSP00000486835.1:n.-4C=
NM_001199107.1:c.-4C=
NP_001186036.1:n.-4C=
NM_020705.2:c.-4C=
NP_065756.1:n.-4C=
XM_017023493.1:c.-4C=
XP_016878982.1:n.-4C=
XM_017023494.1:c.-4C=
XP_016878983.1:n.-4C=
XM_017023495.1:c.-4C=
XP_016878984.1:n.-4C=
XR_001751956.1:n.179C=
NM_001199107.2:c.-4C=
MANE Select
NP_001186036.1:n.-4C=
NM_020705.3:c.-4C=
NP_065756.1:n.-4C=